Department of Neurosciences, Odontostomatology and Reproductive Sciences, University "Federico II", Naples, Italy.
Institute of Biostructure and Bioimaging, National Council of Research, Naples, Italy.
Acta Myol. 2020 Mar 1;39(1):29-31. doi: 10.36185/2532-1900-005. eCollection 2020 Mar.
Facioscapulohumeral muscular dystrophy 1 (FSHD1) is an autosomal dominant neuromuscular disorder, associated with reduction of tandemly arrayed repetitive DNA elements D4Z4 (DRA), at 4q35. Few cases, especially carriers of 1-3 DRA show a syndromic form. Anecdotally the association of FSHD with multiple sclerosis (MS) is reported. Herein we report a 33 years old Caucasian with a molecular diagnosis of FSHD1 with classical phenotype (clinical category A2) and concomitant white matter lesions suggestive of MS. White matter lesions in patients with FSHD have often been described but rarely investigated in order to evaluate a possible diagnosis of MS. We think that MS and FSHD remain clearly distinct diseases, but growing evidences show a widespread and variable activation of the immune system in patients suffering from FSHD probably an hypotheses on a potential common pathogenetic mechanism between these two disorders could should be better investigated.
面肩肱型肌营养不良症 1 型（FSHD1）是一种常染色体显性遗传性神经肌肉疾病，与位于 4q35 的串联重复 DNA 元件 D4Z4（DRA）的减少有关。少数病例，特别是 1-3 个 DRA 的携带者表现出综合征形式。据报道，FSHD 与多发性硬化症（MS）之间存在关联。在此，我们报告了一例 33 岁的高加索白人，其分子诊断为 FSHD1，具有典型表型（临床 A2 类），并伴有提示 MS 的脑白质病变。FSHD 患者的脑白质病变经常被描述，但很少进行调查以评估 MS 的可能诊断。我们认为 MS 和 FSHD 仍然是两种截然不同的疾病，但越来越多的证据表明，患有 FSHD 的患者的免疫系统广泛而多变地被激活，这可能是这两种疾病之间存在潜在共同发病机制的假说，应该对此进行更好的研究。
